A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804043



Internal ID10002947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132622118..132622733hg38UCSC Ensembl
Outerchr10:134435622..134436237hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743705
Supporting Variants
SamplesSSM009
Known GenesINPP5A
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6804043
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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